chr20:52779082:C>T Detail (hg19) (CYP24A1)

Information

Genome

Assembly Position
hg19 chr20:52,779,082-52,779,082
hg38 chr20:54,162,543-54,162,543 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000782.4:c.990+174G>A
NM_001128915.1:c.990+174G>A
Ensemble ENST00000216862.8:c.990+174G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.438
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126065 OMIM
HGNC 2602 HGNC
Ensembl ENSG00000019186 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64082623 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 pancreatic carcinoma For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... BeFree 23826131 Detail
<0.001 Malignant neoplasm of pancreas For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... BeFree 23826131 Detail
<0.001 pancreatic carcinoma For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... BeFree 23826131 Detail
<0.001 Malignant neoplasm of pancreas For example, pancreas cancer risk was inversely associated with CYP2R1 rs1074165... BeFree 23826131 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000782.5(CYP24A1):c.990+174G>A AND not provided ClinVar Detail
For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... DisGeNET Detail
For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... DisGeNET Detail
For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... DisGeNET Detail
For example, pancreas cancer risk was inversely associated with CYP2R1 rs10741657 (AA versus GG, OR ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6127119 dbSNP
Genome
hg19
Position
chr20:52,779,082-52,779,082
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6127119
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4379
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7138
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16300
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